A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517479



Internal ID15444772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:82714523..82722245hg38UCSC Ensembl
Innerchr4:83635676..83643398hg19UCSC Ensembl
Innerchr4:83854700..83862422hg18UCSC Ensembl
Innerchr4:83992855..84000577hg17UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg387723
hg197723
hg187723
hg177723
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv662774, nssv691923, nssv669176, nssv659471, nssv652143, nssv687718, nssv677512, nssv681745, nssv674031, nssv656707, nssv662364, nssv659785, nssv660278, nssv668057, nssv659283, nssv666523, nssv663955, nssv659339, nssv683787, nssv654411, nssv689683, nssv672873, nssv685355, nssv652635, nssv658232, nssv661450, nssv654970, nssv679810, nssv687269, nssv680892, nssv684280, nssv691488, nssv652485, nssv689519, nssv668157, nssv680095, nssv669758, nssv669255, nssv691810, nssv690872, nssv653100, nssv682610, nssv667366, nssv671787, nssv656659, nssv660979, nssv691393, nssv681089, nssv671063
Samples
Known GenesSCD5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517479
Frequency
Sample Size2026
Observed Gain0
Observed Loss49
Observed Complex0
Frequencyn/a


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