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dbVar

Database of genomic structural variation

nsv3910855

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:243,922

Description:NCBI36/hg18 1q32.3(chr1:210044845-210232817)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: 645 SVs from 54 studies. See in: genome view

Remapped(Score: Perfect):211,776,251-212,020,172

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
nsv3910855	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	211,776,251	211,804,880	211,992,852	212,020,172
nsv3910855	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	211,949,593	211,978,222	212,166,194	212,193,514
nsv3910855	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	210,016,216	210,044,845	210,232,817	210,260,137

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127523	copy number gain	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000453478.2, VCV000398833.2	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
nssv15127523	Remapped	Perfect	NC_000001.11:g.(21 1776251_211804880) _(211992852_212020 172)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	211,776,251	211,804,880	211,992,852	212,020,172
nssv15127523	Remapped	Perfect	NC_000001.10:g.(21 1949593_211978222) _(212166194_212193 514)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	211,949,593	211,978,222	212,166,194	212,193,514
nssv15127523	Submitted genomic		NC_000001.9:g.(210 016216_210044845)_ (210232817_2102601 37)dup	NCBI36 (hg18)		NC_000001.9	Chr1	210,016,216	210,044,845	210,232,817	210,260,137

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
nssv15127523	NCBI36: NC_000001.9:g.(210016216_210044845)_(210232817_210260137)dup	copy number gain	not provided	See cases	Uncertain significance	ClinVar	RCV000453478.2, VCV000398833.2	3

No genotype data were submitted for this variant

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