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dbVar

Database of genomic structural variation

nsv3922779

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:285,851

Description:NCBI36/hg18 6q27(chr6:169722575-169970637)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: 1288 SVs from 86 studies. See in: genome view

Remapped(Score: Perfect):169,558,067-169,843,917

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
nsv3922779	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	169,558,067	169,580,554	169,828,616	169,843,917
nsv3922779	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	169,958,163	169,980,650	170,228,712	170,244,013
nsv3922779	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000006.10	Chr6	169,700,088	169,722,575	169,970,637	169,985,938

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15124194	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000450494.2, VCV000400663.2	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
nssv15124194	Remapped	Perfect	NC_000006.12:g.(16 9558067_169580554) _(169828616_169843 917)dup	GRCh38.p12	First Pass	NC_000006.12	Chr6	169,558,067	169,580,554	169,828,616	169,843,917
nssv15124194	Remapped	Perfect	NC_000006.11:g.(16 9958163_169980650) _(170228712_170244 013)dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	169,958,163	169,980,650	170,228,712	170,244,013
nssv15124194	Submitted genomic		NC_000006.10:g.(16 9700088_169722575) _(169970637_169985 938)dup	NCBI36 (hg18)		NC_000006.10	Chr6	169,700,088	169,722,575	169,970,637	169,985,938

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
nssv15124194	NCBI36: NC_000006.10:g.(169700088_169722575)_(169970637_169985938)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000450494.2, VCV000400663.2	3

No genotype data were submitted for this variant

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