A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003822



Internal ID18746353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16636806..16721972hg38UCSC Ensembl
Innerchr1:16963301..17048467hg19UCSC Ensembl
Innerchr1:16835888..16921054hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3885167
hg1985167
hg1885167
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv72n100
Supporting Variantsnssv3462901, nssv3474197, nssv3698903, nssv3472244, nssv3464657, nssv3473034, nssv3462817
Samples
Known GenesESPNP, LOC729574, MIR3675, MST1P2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003822
Frequency
Sample Size29084
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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