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dbVar

Database of genomic structural variation

nsv3917891

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:4,956,038

Description:NCBI36/hg18 2q31.1-31.3(chr2:176763642-181677102)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: 12222 SVs from 116 studies. See in: genome view

Remapped(Score: Perfect):176,187,318-181,143,355

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
nsv3917891	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	176,187,318	176,187,318	181,143,355	181,143,355
nsv3917891	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	177,052,046	177,052,046	182,008,082	182,008,082
nsv3917891	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000002.10	Chr2	176,760,292	176,763,642	181,677,102	181,716,327

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127961	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000451674.2, VCV000399158.2	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
nssv15127961	Remapped	Perfect	NC_000002.12:g.(17 6187318_176187318) _(181143355_181143 355)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	176,187,318	176,187,318	181,143,355	181,143,355
nssv15127961	Remapped	Perfect	NC_000002.11:g.(17 7052046_177052046) _(182008082_182008 082)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	177,052,046	177,052,046	182,008,082	182,008,082
nssv15127961	Submitted genomic		NC_000002.10:g.(17 6760292_176763642) _(181677102_181716 327)del	NCBI36 (hg18)		NC_000002.10	Chr2	176,760,292	176,763,642	181,677,102	181,716,327

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
nssv15127961	NCBI36: NC_000002.10:g.(176760292_176763642)_(181677102_181716327)del	copy number loss	not provided	See cases	Pathogenic	ClinVar	RCV000451674.2, VCV000399158.2	1

No genotype data were submitted for this variant

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