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dbVar

Database of genomic structural variation

nsv917777

Organism: Homo sapiens

Study:nstd75 (ClinGen Prenatal)
Variant Type:copy number variation
Method Type:Oligo aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:54,995

Publication(s):Wapner et al. 2012

Links to Other Resources

Overlapping Genes

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: 421 SVs from 64 studies. See in: genome view

Remapped(Score: Good):43,334-94,474

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv917777	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	43,334	94,474
nsv917777	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NW_003571049.1	Chr12\|NW_0 03571049.1	33,495	88,489
nsv917777	Remapped	Pass	GRCh37.p13	PATCHES	First Pass	NW_003571048.1	Chr12\|NW_0 03571048.1	35,740	84,474
nsv917777	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000012.10	Chr12	20,690	73,901

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1605802	copy number loss	ISCA_ID_pn_1506	Oligo aCGH	Probe signal intensity	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	Submitter	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1605802	Remapped	Good	NW_003571049.1:g.( ?_33495)_(88489_?) del	GRCh38.p12	Second Pass	NW_003571049.1	Chr12\|NW_0 03571049.1	33,495	88,489
nssv1605802	Remapped	Good	NC_000012.12:g.(?_ 43334)_(94474_?)de l	GRCh38.p12	First Pass	NC_000012.12	Chr12	43,334	94,474
nssv1605802	Remapped	Pass	NW_003571048.1:g.( ?_35740)_(84474_?) del	GRCh37.p13	First Pass	NW_003571048.1	Chr12\|NW_0 03571048.1	35,740	84,474
nssv1605802	Submitted genomic		NC_000012.10:g.(?_ 20690)_(73901_?)de l	NCBI36 (hg18)		NC_000012.10	Chr12	20,690	73,901

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Gender	Age	Copy number
nssv1605802	ISCA_ID_pn_1506	NCBI36: NC_000012.10:g.(?_20690)_(73901_?)del	copy number loss	Developmental delay AND/OR other significant developmental or morphological phenotypes	Benign	Submitter	Female	11 weeks gestation	1

No genotype data were submitted for this variant

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