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dbVar

Database of genomic structural variation

nsv5060037

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:1,283,364

Description:GRCh37/hg19 16p13.11(chr16:14968855-16251122)x1 AND not provided

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: 4895 SVs from 121 studies. See in: genome view

Remapped(Score: Perfect):14,874,998-16,157,265

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Outer Stop
nsv5060037	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	14,874,998	-	16,157,265
nsv5060037	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_1	Second Pass	NT_187607.1	Chr16\|NT_1 87607.1	-	531,831	1,815,194
nsv5060037	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	14,968,855	-	16,251,122

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16596275	copy number loss	Multiple	Multiple	not provided	risk factor	ClinVar	RCV001281366.1, VCV000992654.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Outer Stop
nssv16596275	Remapped	Good	NT_187607.1:g.(?_5 31831)_(?_1815194) del	GRCh38.p12	Second Pass	NT_187607.1	Chr16\|NT_1 87607.1	-	531,831	1,815,194
nssv16596275	Remapped	Perfect	NC_000016.10:g.(14 874998_?)_(?_16157 265)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	14,874,998	-	16,157,265
nssv16596275	Submitted genomic		NC_000016.9:g.(149 68855_?)_(?_162511 22)del	GRCh37 (hg19)		NC_000016.9	Chr16	14,968,855	-	16,251,122

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
nssv16596275	GRCh37: NC_000016.9:g.(14968855_?)_(?_16251122)del	copy number loss	paternal	not provided	risk factor	ClinVar	RCV001281366.1, VCV000992654.1	1

No genotype data were submitted for this variant

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