A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064548



Internal ID19153767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088437..46276519hg38UCSC Ensembl
Innerchr17:44165803..44353885hg19UCSC Ensembl
Innerchr17:41521621..41709662hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38188083
hg19188083
hg18188042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3181n100
Supporting Variantsnssv3547205, nssv3720343, nssv3547199, nssv3546432, nssv3546427, nssv3546413, nssv3547200, nssv3547196, nssv3546424, nssv3547183, nssv3546415, nssv3546421, nssv3546433, nssv3547186, nssv3547194, nssv3546420, nssv3547182, nssv3546435, nssv3547191, nssv3546414, nssv3547176, nssv3546428, nssv3720350, nssv3546423, nssv3546426, nssv3720341, nssv3720354, nssv3720351, nssv3720345, nssv3546412, nssv3720340, nssv3547190, nssv3546430, nssv3546434, nssv3547188, nssv3547178, nssv3546417, nssv3547184, nssv3720347, nssv3720352, nssv3546431, nssv3547201, nssv3547185, nssv3720349, nssv3547197, nssv3720342, nssv3547192, nssv3547177, nssv3546429, nssv3720346, nssv3547174, nssv3547198, nssv3547202, nssv3720344, nssv3547195, nssv3546425, nssv3720339, nssv3547203, nssv3547187, nssv3547175, nssv3547206, nssv3547193, nssv3547181, nssv3546418, nssv3547179, nssv3546419, nssv3547204, nssv3720355, nssv3720356, nssv3546422, nssv3720353, nssv3546416, nssv3547180, nssv3547189, nssv3720348
Samples
Known GenesKANSL1, KANSL1-AS1, LOC644172
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064548
Frequency
Sample Size11257
Observed Gain75
Observed Loss0
Observed Complex0
Frequencyn/a


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