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dbVar

Database of genomic structural variation

nsv3913861

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:677,393

Description:NCBI36/hg18 7q11.23(chr7:76026279-76625289)x3 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: 2979 SVs from 119 studies. See in: genome view

Remapped(Score: Perfect):76,516,728-77,194,120

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
nsv3913861	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	76,516,728	76,559,026	77,158,036	77,194,120
nsv3913861	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	76,146,045	76,188,343	76,787,353	76,823,437
nsv3913861	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000007.12	Chr7	75,983,981	76,026,279	76,625,289	76,661,373

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127082	copy number gain	Multiple	Multiple	See cases	Benign	ClinVar	RCV000450210.2, VCV000401077.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15127082	Remapped	Perfect	NC_000007.14:g.(76 516728_76559026)_( 77158036_77194120) dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	76,516,728	76,559,026	77,158,036	77,194,120
nssv15127082	Remapped	Perfect	NC_000007.13:g.(76 146045_76188343)_( 76787353_76823437) dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	76,146,045	76,188,343	76,787,353	76,823,437
nssv15127082	Submitted genomic		NC_000007.12:g.(75 983981_76026279)_( 76625289_76661373) dup	NCBI36 (hg18)		NC_000007.12	Chr7	75,983,981	76,026,279	76,625,289	76,661,373

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
nssv15127082	NCBI36: NC_000007.12:g.(75983981_76026279)_(76625289_76661373)dup	copy number gain	not provided	See cases	Benign	ClinVar	RCV000450210.2, VCV000401077.2	3

No genotype data were submitted for this variant

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