A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18229581



Internal ID20796621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:99943801..101566300hg38UCSC Ensembl
chr7:99541424..101209580hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg381622500
hg191668157
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6614776
Supporting Variants
Samples
Known GenesACHE, ACTL6B, AGFG2, AP1S1, AP4M1, AZGP1, AZGP1P1, C7orf43, C7orf61, CLDN15, CNPY4, COL26A1, COPS6, EPHB4, EPO, FBXO24, FIS1, GAL3ST4, GATS, GIGYF1, GNB2, GPC2, LAMTOR4, LINC01007, LRCH4, MBLAC1, MCM7, MEPCE, MIR106B, MIR25, MIR4653, MIR4658, MIR6840, MIR6875, MIR93, MOGAT3, MOSPD3, MUC12, MUC17, NAT16, NYAP1, PCOLCE, PCOLCE-AS1, PILRA, PILRB, PLOD3, PMS2P1, POP7, PPP1R35, PVRIG, PVRIG2P, RABL5, SAP25, SERPINE1, SLC12A9, SPDYE3, SRRT, STAG3, STAG3L5P, STAG3L5P-PVRIG2P-PILRB, TAF6, TFR2, TRIM56, TRIP6, TSC22D4, UFSP1, VGF, ZAN, ZCWPW1, ZKSCAN1, ZNF3, ZNHIT1, ZSCAN21
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18229581
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.9998


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