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dbVar

Database of genomic structural variation

nsv3923570

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:15,380,328

Description:NCBI36/hg18 7q31.1-31.32(chr7:107600434-122936004)x1 AND See cases

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 37317 SVs from 128 studies. See in: genome view

Remapped(Score: Good):108,156,200-123,536,527

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3923570	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	108,156,200	108,156,200	123,536,527	123,536,527
nsv3923570	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	107,796,645	107,813,198	123,148,768	123,176,581
nsv3923570	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000007.12	Chr7	107,583,881	107,600,434	122,936,004	122,963,817

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126350	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000450819.2, VCV000401499.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15126350	Remapped	Good	NC_000007.14:g.(10 8156200_108156200) _(123536527_123536 527)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	108,156,200	108,156,200	123,536,527	123,536,527
nssv15126350	Remapped	Perfect	NC_000007.13:g.(10 7796645_107813198) _(123148768_123176 581)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	107,796,645	107,813,198	123,148,768	123,176,581
nssv15126350	Submitted genomic		NC_000007.12:g.(10 7583881_107600434) _(122936004_122963 817)del	NCBI36 (hg18)		NC_000007.12	Chr7	107,583,881	107,600,434	122,936,004	122,963,817

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126350	NCBI36: NC_000007.12:g.(107583881_107600434)_(122936004_122963817)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000450819.2, VCV000401499.2	1

No genotype data were submitted for this variant

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