A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18189116



Internal ID20756156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6012501..7083600hg38UCSC Ensembl
chr12:6121667..7189876hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381071100
hg191068210
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6472373
Supporting Variants
Samples
Known GenesACRBP, ATN1, C12orf57, C1R, C1S, CD27, CD27-AS1, CD4, CD9, CDCA3, CHD4, COPS7A, DSTNP2, EMG1, ENO2, GAPDH, GNB3, GPR162, IFFO1, ING4, LAG3, LEPREL2, LPAR5, LPCAT3, LRRC23, LTBR, MIR141, MIR200C, MLF2, MRPL51, NCAPD2, NOP2, PHB2, PIANP, PLEKHG6, PTMS, PTPN6, RPL13P5, SCARNA10, SCARNA11, SCARNA12, SCNN1A, SPSB2, TAPBPL, TNFRSF1A, TPI1, USP5, VAMP1, VWF, ZNF384
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18189116
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00059


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