A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv946612



Internal ID18593462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:206309524..206410530hg38UCSC Ensembl
Innerchr1:206482868..206583890hg19UCSC Ensembl
Innerchr1:204549491..204650513hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38101007
hg19101023
hg18101023
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1815353, nssv1815352, nssv1815355, nssv1815349, nssv1815346, nssv1815351, nssv1815350, nssv1815354, nssv1815347, nssv1815348
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesSRGAP2, SRGAP2B, SRGAP2C, SRGAP2D
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv946612
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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