A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065553



Internal ID19154772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41249017..41274267hg38UCSC Ensembl
Innerchr17:39405269..39430519hg19UCSC Ensembl
Innerchr17:36658795..36684045hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3825251
hg1925251
hg1825251
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3160n100
Supporting Variantsnssv3562564, nssv3562579, nssv3562577, nssv3562566, nssv3562569, nssv3562565, nssv3562573, nssv3562574, nssv3562567, nssv3562570, nssv3562572, nssv3562568, nssv3562578, nssv3562571, nssv3562575, nssv3562580, nssv3562576, nssv3562562, nssv3562563
Samples
Known GenesKRTAP9-4, KRTAP9-6, KRTAP9-9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065553
Frequency
Sample Size11257
Observed Gain9
Observed Loss10
Observed Complex0
Frequencyn/a


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