A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv962309



Internal ID18597553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:32001170..32053577hg38UCSC Ensembl
Innerchr17:30328189..30380596hg19UCSC Ensembl
Innerchr17:27352302..27404709hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3852408
hg1952408
hg1852408
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2091986, nssv2091990, nssv2091987, nssv2091985, nssv2091992, nssv2091994, nssv2091988, nssv2091991, nssv2091989, nssv2091993
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesLRRC37B, SH3GL1P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv962309
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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