Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv3910307

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:121,767

Description:
NCBI36/hg18 12p13.33(chr12:18636-136086)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: 783 SVs from 79 studies. See in: genome view

Remapped(Score: Good):43,334-161,246

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nsv3910307	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	43,334	161,246	161,246
nsv3910307	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003571049.1	Chr12\|NW_0 03571049.1	33,495	155,261	155,261
nsv3910307	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	148,375	265,825	270,412
nsv3910307	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000012.10	Chr12	18,636	136,086	140,673

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15127107	copy number loss	Multiple	Multiple	See cases	Uncertain significance	ClinVar	RCV000450249.2, VCV000398413.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nssv15127107	Remapped	Good	NW_003571049.1:g.( ?_33495)_(155261_1 55261)del	GRCh38.p12	Second Pass	NW_003571049.1	Chr12\|NW_0 03571049.1	33,495	155,261	155,261
nssv15127107	Remapped	Good	NC_000012.12:g.(?_ 43334)_(161246_161 246)del	GRCh38.p12	First Pass	NC_000012.12	Chr12	43,334	161,246	161,246
nssv15127107	Remapped	Perfect	NC_000012.11:g.(?_ 148375)_(265825_27 0412)del	GRCh37.p13	First Pass	NC_000012.11	Chr12	148,375	265,825	270,412
nssv15127107	Submitted genomic		NC_000012.10:g.(?_ 18636)_(136086_140 673)del	NCBI36 (hg18)		NC_000012.10	Chr12	18,636	136,086	140,673

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
nssv15127107	NCBI36: NC_000012.10:g.(?_18636)_(136086_140673)del	copy number loss	not provided	See cases	Uncertain significance	ClinVar	RCV000450249.2, VCV000398413.2	1

No genotype data were submitted for this variant

You are here: NCBI